Basic Science and Pathogenesis

The microtubule-associated protein tau is the most commonly misfolded protein in neurodegenerative disorders including Alzheimer's disease and other related tauopathies. These neurological illnesses are hypothesized to share a common mechanism of disease progression, where pathogenic aggregates...

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Veröffentlicht in:Alzheimer's & dementia Jg. 20 Suppl 1; S. e089660
Hauptverfasser: Deckert, Annika, Böddrich, Annett, Diez, Lisa, Schmitt, Matthias Jürgen, Nevado, Juan Carlos Company, Beetz, Stephanie, Brusendorf, Lydia, Serresi, Michela, Wegmann, Susanne, Gargiulo, Gaetano, Wanker, Erich
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Sprache:Englisch
Veröffentlicht: United States 01.12.2024
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ISSN:1552-5279
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Abstract The microtubule-associated protein tau is the most commonly misfolded protein in neurodegenerative disorders including Alzheimer's disease and other related tauopathies. These neurological illnesses are hypothesized to share a common mechanism of disease progression, where pathogenic aggregates or 'seeds' of the tau protein function as templates promoting misfolding of functional, soluble tau protein. Under this premise, therapeutic strategies that modulate the seeding cascade, have high potential to interfere with the disease process. While increasing evidence is emerging that tau pathology progression is based on seeding and spreading mechanisms reminiscent of prion protein pathology, an in-depth understanding of the cellular pathways and cofactors that drive disease progression is, however, still lacking. In order to identify tau seeding modulators, a previously described HEK293T biosensor cell line was applied, able to sensitively detect tau seeding. To understand the self-propagation process, I exploited this cell model to performed a pooled genome-wide loss-of-function CRISPR screen , allowing the identification of proteins that robustly influence tau seeding. Amongst the top hits were many genes involved in autophagy and specifically autophagosome formation. Building on these insights, I am working towards a mechanistic understanding how the loss of function of the ATG genes impacts tau seeding in mammalian cells and in a Drosophila melanogaster model. Together, my in vitro and in vivo studies are starting to unravel the molecular details of the interplay between tau seeding and autophagy. These studies have the ability to reveal novel strategies to reduce the toxicity of tau aggregates by stimulating the activity of the autophagic machinery. Research approaches addressing tau in general, and tau seeding more specifically, have enormous potential to provide highly innovative, disease-modifying first-in-class therapeutics for AD. References 1) Holmes BB et al. (2014) "Proteopathic tau seeding predicts tauopathy in vivo. Proc Natl Acad Sci USA. 111: E4376-E4385 2) Doench JG et al. (2016) "Optimized sgRNA design to maximise activity and minimise off-target effects of CRISPR-Cas9." Nat. Biotechnol. 34: 184-191.
AbstractList The microtubule-associated protein tau is the most commonly misfolded protein in neurodegenerative disorders including Alzheimer's disease and other related tauopathies. These neurological illnesses are hypothesized to share a common mechanism of disease progression, where pathogenic aggregates or 'seeds' of the tau protein function as templates promoting misfolding of functional, soluble tau protein. Under this premise, therapeutic strategies that modulate the seeding cascade, have high potential to interfere with the disease process. While increasing evidence is emerging that tau pathology progression is based on seeding and spreading mechanisms reminiscent of prion protein pathology, an in-depth understanding of the cellular pathways and cofactors that drive disease progression is, however, still lacking. In order to identify tau seeding modulators, a previously described HEK293T biosensor cell line was applied, able to sensitively detect tau seeding. To understand the self-propagation process, I exploited this cell model to performed a pooled genome-wide loss-of-function CRISPR screen , allowing the identification of proteins that robustly influence tau seeding. Amongst the top hits were many genes involved in autophagy and specifically autophagosome formation. Building on these insights, I am working towards a mechanistic understanding how the loss of function of the ATG genes impacts tau seeding in mammalian cells and in a Drosophila melanogaster model. Together, my in vitro and in vivo studies are starting to unravel the molecular details of the interplay between tau seeding and autophagy. These studies have the ability to reveal novel strategies to reduce the toxicity of tau aggregates by stimulating the activity of the autophagic machinery. Research approaches addressing tau in general, and tau seeding more specifically, have enormous potential to provide highly innovative, disease-modifying first-in-class therapeutics for AD. References 1) Holmes BB et al. (2014) "Proteopathic tau seeding predicts tauopathy in vivo. Proc Natl Acad Sci USA. 111: E4376-E4385 2) Doench JG et al. (2016) "Optimized sgRNA design to maximise activity and minimise off-target effects of CRISPR-Cas9." Nat. Biotechnol. 34: 184-191.
Author Böddrich, Annett
Nevado, Juan Carlos Company
Gargiulo, Gaetano
Schmitt, Matthias Jürgen
Brusendorf, Lydia
Diez, Lisa
Wegmann, Susanne
Wanker, Erich
Beetz, Stephanie
Deckert, Annika
Serresi, Michela
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  surname: Böddrich
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  organization: Max Delbrück Center for Molecular Medicine, Berlin, Germany
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  surname: Diez
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  organization: DZNE German Center for Neurodegenerative Diseases, Berlin, Germany
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  givenname: Matthias Jürgen
  surname: Schmitt
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  organization: Max Delbrück Center for Molecular Medicine, Berlin, Germany
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  givenname: Juan Carlos Company
  surname: Nevado
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  organization: Max Delbrück Center for Molecular Medicine, Berlin, Germany
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  surname: Wanker
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  organization: Max Delbrück Center for Molecular Medicine, Berlin, Germany
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Snippet The microtubule-associated protein tau is the most commonly misfolded protein in neurodegenerative disorders including Alzheimer's disease and other related...
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StartPage e089660
SubjectTerms Alzheimer Disease - genetics
Alzheimer Disease - metabolism
Alzheimer Disease - pathology
Animals
Autophagy - physiology
Drosophila melanogaster
HEK293 Cells
Humans
tau Proteins - metabolism
Tauopathies - genetics
Tauopathies - pathology
Title Basic Science and Pathogenesis
URI https://www.ncbi.nlm.nih.gov/pubmed/39751117
Volume 20 Suppl 1
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